Varaico: Literature-Extracted Genetic Variants

CFTR

9,737 papers

RefSeq Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and co...

Pfam Domains

ABC_membraneaa 81–350UCSCABC transporter transmembrane region

ABC_tranaa 441–576UCSCABC transporter

CFTR_Raa 639–849UCSCCystic fibrosis TM conductance regulator (CFTR), regulator domain

ABC_membraneaa 862–1147UCSCABC transporter transmembrane region

ABC_tranaa 1227–1374UCSCABC transporter

Gene Aliases

HGNC Name

CF transmembrane conductance regulator

HGNC Previous Symbols

CF; ABCC7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000492.4

p.D1394G

c.4181A>G

Surrounding Variants

1 paper

NM_000492.4

p.D1394A

c.4181A>C

1 paper

NM_000492.4

p.D1394D

c.4182T>C

5 papers

NM_000492.4

p.C1395S

c.4183T>A

1 paper

NM_000492.4

p.C1395Y

c.4184G>A

5 papers

NM_000492.4

p.C1395S

c.4184G>C

2 papers

NM_000492.4

p.C1395F

c.4184G>T

2 papers

NM_000492.4

p.C1395*

c.4185C>A

6 papers

NM_000492.4

p.T1396P

c.4186A>C

2 papers

NM_000492.4

p.T1396A

c.4186A>G

2 papers

NM_000492.4

p.T1396delFs

c.4187delC

3 papers

NM_000492.4

p.F1392L

c.4176T>A

3 papers

NM_000492.4

p.F1392L

c.4176T>G